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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
- Published in:
- Nature Genetics, 2015, v. 47, n. 5, p. 528, doi. 10.1038/ng.3256
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- Article
Gómez-López-hernández syndrome versus rhombencephalosynapsis spectrum: A rare co-occurrence with bipartite parietal bone.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 2, p. 480, doi. 10.1002/ajmg.a.36276
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- Publication type:
- Article
Exome Sequencing Can Improve Diagnosis and Alter Patient Management.
- Published in:
- Science Translational Medicine, 2012, v. 4, n. 138, p. 1, doi. 10.1126/scitranslmed.3003544
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- Article